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PHOENIX (GenomeWeb) – Targeted gene sequencing is showing promise for diagnosing forms of diabetes caused by single gene mutations, attendees heard here yesterday at the American College of Medical Genetics and Genomics annual meeting.

The Human Gene Mutation Database (HGMD) is a manually curated, comprehensive collection of disease-causing, germline mutations. Since 1996, a team of experts has manually catalogued over a quarter of a million mutations for the database.